PMID- 11342777
OWN - NLM
STAT- MEDLINE
DCOM- 20010524
LR  - 20190822
IS  - 0147-5185 (Print)
IS  - 0147-5185 (Linking)
VI  - 25
IP  - 5
DP  - 2001 May
TI  - Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion 
      that identifies unsuspected Gardner syndrome and risk for fibromatosis.
PG  - 645-51
AB  - Gardner syndrome (GS), caused by mutations in the adenomatous polyposis coli 
      (APC) gene, is characterized by polyposis coli, osteomas, and various soft-tissue 
      tumors. If undetected or untreated, virtually all patients develop colonic 
      carcinoma at a young age. Early detection, while essential, can be difficult 
      because of attenuated phenotypes or spontaneous mutations. We present the 
      clinicopathologic features of 11 identical fibromatous lesions that we have 
      termed Gardner-associated fibroma (GAF), which not only appear to be a part of 
      the spectrum of lesions associated with GS but, in some cases, represent the 
      sentinel event leading to its detection. The GAFs occurred in 11 patients (5 boys 
      and 6 girls; age range, 3 months-14 years), were solitary (n = 7) or multiple (n 
      = 4), and occurred in the superficial and deep soft tissues of the paraspinal 
      region (n = 7), back (n = 3), face (n = 2), scalp (n = 2), chest wall (n = 2), 
      thigh (n = 1), neck (n = 1), and flank (n = 1). Histologically, GAFs resemble 
      nuchal-type fibromas (NFs), consisting of thick, haphazardly arranged collagen 
      bundles between which are found occasional bland fibroblasts, and having margins 
      that frequently engulf surrounding structures including adjacent fat, muscle and 
      nerves. After surgical excision, four patients developed recurrences that were 
      classic desmoid fibromatoses (DFs). In one patient with multiple GAFs, one lesion 
      had the features of GAF and DF in the absence of surgical trauma. A family 
      history of GS or polyposis (n = 6) or DF (n = 1) was known at the time of surgery 
      in seven patients. In three patients, the diagnosis of GAF resulted in the 
      diagnosis of unsuspected APC in older family members, with the detection of an 
      occult colonic adenocarcinoma in one parent. In the family of the remaining 
      patient, no stigmata of GS were present. Genetic analysis of this child was 
      performed to investigate the presence of a spontaneous (new) mutation; however, 
      no abnormalities were detected. The significance of GAF is that it serves as a 
      sentinel event for identifying GS kindreds, including those with a high risk for 
      the development of DF, and it may potentially identify children with spontaneous 
      mutations of the APC gene. Because NFs and GAFs resemble one another, we suggest 
      that a subset of NF occurring in multiple sites, unusual locations, or children 
      may be GAF.
FAU - Wehrli, B M
AU  - Wehrli BM
AD  - Department of Pathology, British Columbia Children's Hospital, Vancouver, British 
      Columbia, Canada.
FAU - Weiss, S W
AU  - Weiss SW
FAU - Yandow, S
AU  - Yandow S
FAU - Coffin, C M
AU  - Coffin CM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (Neoplasm Proteins)
SB  - IM
MH  - Adenomatous Polyposis Coli/complications/pathology
MH  - Adolescent
MH  - Biomarkers, Tumor/analysis
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Fibroma/chemistry/complications/*pathology/surgery
MH  - Fibromatosis, Aggressive/complications/*pathology
MH  - Gardner Syndrome/complications/*pathology/surgery
MH  - Humans
MH  - Immunohistochemistry
MH  - Infant
MH  - Male
MH  - Neoplasm Proteins/analysis
MH  - Neoplasm Recurrence, Local/pathology
MH  - Risk Factors
MH  - Soft Tissue Neoplasms/chemistry/complications/*pathology/surgery
EDAT- 2001/05/09 10:00
MHDA- 2001/05/26 10:01
CRDT- 2001/05/09 10:00
PHST- 2001/05/09 10:00 [pubmed]
PHST- 2001/05/26 10:01 [medline]
PHST- 2001/05/09 10:00 [entrez]
AID - 10.1097/00000478-200105000-00012 [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2001 May;25(5):645-51. doi: 10.1097/00000478-200105000-00012.